Search Results - "Horan, Martin"

Review: quantifying mitochondrial dysfunction in complex diseases of aging by Horan, Martin P, Pichaud, Nicolas, Ballard, J William O

“…There is accumulating evidence that mitochondrial respiratory malfunction is associated with aging-associated complex diseases. However, progress in our…”
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From Somatic Variants Toward Precision Oncology: An Investigation of Reporting Practice for Next‐Generation Sequencing‐Based Circulating Tumor DNA Analysis by Peng, Rongxue, Zhang, Rui, Horan, Martin P., Zhou, Li, Chai, Sze Yee, Pillay, Nalishia, Tay, Kwang Hong, Badrick, Tony, Li, Jinming

“…Background With the accelerated development of next‐generation sequencing (NGS), identified variants, and targeted therapies, clinicians who confront the…”
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The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease by Horan, Martin P., Cooper, David N.

“…Mitochondrial malfunction appears to be intimately associated with age and age-related complex disorders but the precise pathological relevance of such…”
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Application of serial analysis of gene expression to the study of human genetic disease by Horan, Martin P

“…Sequence tag analysis using serial analysis of gene expression (SAGE) is a powerful strategy for the quantitative analysis of gene expression in human genetic…”
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Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path) by Fenizia, Francesca, Wolstenholme, Nicola, Fairley, Jennifer A., Rouleau, Etienne, Cheetham, Melanie H., Horan, Martin P., Torlakovic, Emina, Besse, Benjamin, Al Dieri, Raed, Tiniakos, Dina G., Deans, Zandra C., Patton, Simon J., Normanno, Nicola

“…While tumour mutation burden (TMB) is emerging as a possible biomarker for immune-checkpoint inhibitors (ICI), methods for testing have not been standardised…”
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From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression by Horan, Martin P, Gemmell, Neil J, Wolff, Jonci N

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Essential Requirement for PP2A Inhibition by the Oncogenic Receptor c-KIT Suggests PP2A Reactivation as a Strategy to Treat c-KIT+ Cancers by ROBERT, Kathryn G, SMITH, Amanda M, SIM, Alistair T. R, ASHMAN, Leonie K, VERRILLS, Nicole M, MCDOUGALL, Fiona, CARPENTER, Helen, HORAN, Martin, NEVIANI, Paolo, POWELL, Jason A, THOMAS, Daniel, GUTHRIDGE, Mark A, PERROTTI, Danilo

“…Oncogenic mutations of the receptor tyrosine kinase c-KIT play an important role in the pathogenesis of gastrointestinal stromal tumors, systemic mastocytosis,…”
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An external quality assurance trial to assess mass spectrometry protein testing facilities for identifying multiple human peptides by Horan, Martin P., Hoffmann, Peter, Briggs, Matthew T., Condina, Mark, Herbert, Shane, Ito, Jason, Rodger, Alison, McKay, Matthew, Maltby, David, Crossett, Ben, Abudulai, Laila N., Clarke, Michael W., Badrick, Tony

“…The application of proteomic liquid chromatography mass spectrometry (LC-MS) for identifying proteins and peptides associated with human disease is rapidly…”
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Uptake and mitochondrial dysfunction of alpha-synuclein in human astrocytes, cortical neurons and fibroblasts by Braidy, Nady, Gai, Wei-Ping, Xu, Ying Hua, Sachdev, Perminder, Guillemin, Gilles J, Jiang, Xing-Mai, Ballard, J William O, Horan, Martin P, Fang, Zhi Ming, Chong, Beng H, Chan, Daniel Kam Yin

“…The accumulation and aggregation of alpha-synuclein (α-syn) in several tissue including the brain is a major pathological hallmark in Parkinson's disease (PD)…”
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External Quality Assurance of Current Technology for the Testing of Cancer-Associated Circulating Free DNA Variants by Chai, Sze Yee, Peng, Rongxue, Zhang, Rui, Zhou, Li, Pillay, Nalishia, Tay, Kwang Hong, Badrick, Tony, Li, Jinming, Horan, Martin P.

“…Liquid biopsy testing is rapidly emerging as a diagnostic means of identifying circulating free DNA (cfDNA) disease-associated variants. However, the reporting…”
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Alpha-Synuclein Transmission and Mitochondrial Toxicity in Primary Human Foetal Enteric Neurons In Vitro by Braidy, Nady, Gai, Wei-Ping, Xu, Ying Hua, Sachdev, Perminder, Guillemin, Gilles J., Jiang, Xing-Mai, Ballard, J. William O., Horan, Martin P., Fang, Zhi Ming, Chong, Beng H., Chan, Daniel Kam Yin

“…Parkinson’s disease (PD) is a multicentred neurodegenerative disorder characterised by the accumulation and aggregation of alpha-synuclein (α-syn) in several…”
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Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene by Millar, David S, Horan, Martin, Chuzhanova, Nadia A, Cooper, David N

“…The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone 1 ( GH1 ) gene, has been…”
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Quaternary protein modeling to predict the function of DNA variation found in human mitochondrial cytochrome c oxidase by Horan, Martin Patrick, Rumbley, Jon N, Melvin, Richard G, Le Couteur, David G, Ballard, J William O

“…Cytochrome c oxidase (COX) of the electron transport system is thought to be the rate-limiting step in cellular respiration and is found mutated in numerous…”
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Human growth hormone 1 (GH1) gene expression: Complex haplotype‐dependent influence of polymorphic variation in the proximal promoter and locus control region by Horan, Martin, Millar, David S., Hedderich, Jürgen, Lewis, Geraint, Newsway, Vicky, Mo, Neil, Fryklund, Linda, Procter, Annie M., Krawczak, Michael, Cooper, David N.

“…The proximal promoter region of the human pituitary expressed growth hormone (GH1) gene is highly polymorphic, containing at least 15 single nucleotide…”
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Growth hormone ( GH1) gene variation and the growth hormone receptor ( GHR) exon 3 deletion polymorphism in a West-African population by Millar, David S., Lewis, Mark D., Horan, Martin, Newsway, Vicky, Rees, D. Aled, Easter, Tammy E., Pepe, Guglielmina, Rickards, Olga, Norin, Martin, Scanlon, Maurice F., Krawczak, Michael, Cooper, David N.

“…Among Europeans, functionally significant GH1 gene variants occur not only in individuals with idiopathic growth hormone (GH) deficiency and/or short stature…”
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Functional analysis of polymorphic variation within the promoter and 5′ untranslated region of the neurofibromatosis type 1 (NF1) gene by Horan, Martin P., Osborn, Michael, Cooper, David N., Upadhyaya, Meena

“…The regulatory regions of the neurofibromatosis type 1 (NF1) gene have scarcely been screened either for mutations of potential pathological importance or for…”
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Quality assurance for next generation sequencing by Chai, Sze, Munusamy, Nalishia, Tay, Kwang Hong, Horan, Martin P.

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RCPAQAP Update: Quality Assurance In Maternal Cell Contamination by Bennetts, Bruce, Carey, Louise, Munusamy, Nalishia, Horan, Martin, Chai, Sze Yee, Ravine, Anja

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High rates of variation in HLA-DQ2/DQ8 testing for coeliac disease: results from an RCPAQAP pilot program by Horan, Martin Patrick, Chai, Sze Yee, Munusamy, Nalishia, Tay, Kwang Hong, Wienholt, Louise, Tye-Din, Jason A, Daveson, James, Varney, Michael, Badrick, Tony

“…Coeliac disease(CD) is a highly prevalent, gluten-dependent, autoimmune enteropathy. While the diagnosis is based on serological and histological criteria,…”
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Developing quality assurance program for total DNA extraction by Chai, Sze Yee, Pillay, Nalishia, Badrick, Tony, Bennetts, Bruce, Horan, Martin

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